Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68780659_68780665del | CA2580084732 | CPT1A | c.1435_1441del (p.Pro479TrpfsTer?) c.1531_1537del (p.Pro511TrpfsTer?) | ClinVar |
11 | g.68780662G>A | CA221853 | CPT1A | c.1436C>T (p.Pro479Leu) c.1532C>T (p.Pro511Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68780662G>C | CA381630714 | CPT1A | c.1436C>G (p.Pro479Arg) c.1532C>G (p.Pro511Arg) | |
11 | g.68780662G= | CA2580600325 | CPT1A | c.1436C= (p.Pro479=) c.1532C= (p.Pro511=) | |
11 | g.68780662G>T | CA381630715 | CPT1A | c.1436C>A (p.Pro479Gln) c.1532C>A (p.Pro511Gln) | |
11 | g.68780663G>A | CA381630717 | CPT1A | c.1435C>T (p.Pro479Ser) c.1531C>T (p.Pro511Ser) | |
11 | g.68780663G>C | CA381630718 | CPT1A | c.1435C>G (p.Pro479Ala) c.1531C>G (p.Pro511Ala) | |
11 | g.68780663G>T | CA381630716 | CPT1A | c.1435C>A (p.Pro479Thr) c.1531C>A (p.Pro511Thr) | |
11 | g.68780664C>A | CA475192690 | CPT1A | c.1434G>T (p.Ala478=) c.1530G>T (p.Ala510=) | |
11 | g.68780664C>G | CA475192691 | CPT1A | c.1434G>C (p.Ala478=) c.1530G>C (p.Ala510=) | |
11 | g.68780664C>T | CA6152309 | CPT1A | c.1434G>A (p.Ala478=) c.1530G>A (p.Ala510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68780665G>A | CA381630719 | CPT1A | c.1433C>T (p.Ala478Val) c.1529C>T (p.Ala510Val) | ClinVar dbSNP gnomAD v4 |
11 | g.68780665G>C | CA381630720 | CPT1A | c.1433C>G (p.Ala478Gly) c.1529C>G (p.Ala510Gly) | |
11 | g.68780665G>T | CA381630721 | CPT1A | c.1433C>A (p.Ala478Glu) c.1529C>A (p.Ala510Glu) | |
11 | g.68780666C>A | CA381630722 | CPT1A | c.1432G>T (p.Ala478Ser) c.1528G>T (p.Ala510Ser) | COSMIC |
11 | g.68780666C>G | CA381630723 | CPT1A | c.1432G>C (p.Ala478Pro) c.1528G>C (p.Ala510Pro) | |
11 | g.68780666C>T | CA381630724 | CPT1A | c.1432G>A (p.Ala478Thr) c.1528G>A (p.Ala510Thr) | |
11 | g.68780667A>C | CA381630725 | CPT1A | c.1431T>G (p.Asp477Glu) c.1527T>G (p.Asp509Glu) | |
11 | g.68780667A>G | CA475192714 | CPT1A | c.1431T>C (p.Asp477=) c.1527T>C (p.Asp509=) | |
11 | g.68780667A>T | CA381630726 | CPT1A | c.1431T>A (p.Asp477Glu) c.1527T>A (p.Asp509Glu) | |
11 | g.68780668T>A | CA381630727 | CPT1A | c.1430A>T (p.Asp477Val) c.1526A>T (p.Asp509Val) | |
11 | g.68780668T>C | CA381630728 | CPT1A | c.1430A>G (p.Asp477Gly) c.1526A>G (p.Asp509Gly) | |
11 | g.68780668T>G | CA381630729 | CPT1A | c.1430A>C (p.Asp477Ala) c.1526A>C (p.Asp509Ala) | |
11 | g.68780669C>A | CA381630730 | CPT1A | c.1429G>T (p.Asp477Tyr) c.1525G>T (p.Asp509Tyr) | COSMIC COSMIC |
11 | g.68780669C>G | CA381630731 | CPT1A | c.1429G>C (p.Asp477His) c.1525G>C (p.Asp509His) | |
11 | g.68780669C>T | CA381630732 | CPT1A | c.1429G>A (p.Asp477Asn) c.1525G>A (p.Asp509Asn) | |
11 | g.68780670T>A | CA475192759 | CPT1A | c.1428A>T (p.Ala476=) c.1524A>T (p.Ala508=) | |
11 | g.68780670T>C | CA475192760 | CPT1A | c.1428A>G (p.Ala476=) c.1524A>G (p.Ala508=) | |
11 | g.68780670T>G | CA475192761 | CPT1A | c.1428A>C (p.Ala476=) c.1524A>C (p.Ala508=) | |
11 | g.68780671G>A | CA381630733 | CPT1A | c.1427C>T (p.Ala476Val) c.1523C>T (p.Ala508Val) | |
11 | g.68780671G>C | CA381630735 | CPT1A | c.1427C>G (p.Ala476Gly) c.1523C>G (p.Ala508Gly) | |
11 | g.68780671G>T | CA381630734 | CPT1A | c.1427C>A (p.Ala476Glu) c.1523C>A (p.Ala508Glu) | |
11 | g.68780672C>A | CA381630736 | CPT1A | c.1426G>T (p.Ala476Ser) c.1522G>T (p.Ala508Ser) | |
11 | g.68780672C>G | CA381630737 | CPT1A | c.1426G>C (p.Ala476Pro) c.1522G>C (p.Ala508Pro) | |
11 | g.68780672C>T | CA381630738 | CPT1A | c.1426G>A (p.Ala476Thr) c.1522G>A (p.Ala508Thr) | |
11 | g.68780673C>A | CA381630739 | CPT1A | c.1425G>T (p.Trp475Cys) c.1521G>T (p.Trp507Cys) | |
11 | g.68780673C= | CA2581028848 | CPT1A | c.1425G= (p.Trp475=) c.1521G= (p.Trp507=) | |
11 | g.68780673C>G | CA381630740 | CPT1A | c.1425G>C (p.Trp475Cys) c.1521G>C (p.Trp507Cys) | |
11 | g.68780673C>T | CA344967 | CPT1A | c.1425G>A (p.Trp475Ter) c.1521G>A (p.Trp507Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.68780674C>A | CA381630741 | CPT1A | c.1424G>T (p.Trp475Leu) c.1520G>T (p.Trp507Leu) | |
11 | g.68780674C>G | CA381630742 | CPT1A | c.1424G>C (p.Trp475Ser) c.1520G>C (p.Trp507Ser) | |
11 | g.68780674C>T | CA381630743 | CPT1A | c.1424G>A (p.Trp475Ter) c.1520G>A (p.Trp507Ter) | |
11 | g.68780675A>C | CA381630744 | CPT1A | c.1423T>G (p.Trp475Gly) c.1519T>G (p.Trp507Gly) | |
11 | g.68780675A>G | CA381630745 | CPT1A | c.1423T>C (p.Trp475Arg) c.1519T>C (p.Trp507Arg) | |
11 | g.68780675A>T | CA381630746 | CPT1A | c.1423T>A (p.Trp475Arg) c.1519T>A (p.Trp507Arg) | |
11 | g.68780676G>A | CA475192811 | CPT1A | c.1422C>T (p.Ser474=) c.1518C>T (p.Ser506=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68780676G>C | CA475192814 | CPT1A | c.1422C>G (p.Ser474=) c.1518C>G (p.Ser506=) | |
11 | g.68780676G>T | CA475192818 | CPT1A | c.1422C>A (p.Ser474=) c.1518C>A (p.Ser506=) | |
11 | g.68780677G>A | CA381630747 | CPT1A | c.1421C>T (p.Ser474Phe) c.1517C>T (p.Ser506Phe) | |
11 | g.68780677G>C | CA381630749 | CPT1A | c.1421C>G (p.Ser474Cys) c.1517C>G (p.Ser506Cys) |